Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review

Abstract

The aim of this paper was to conduct a systematic review of the cost-effectiveness of the analysis of cell-free DNA in maternal blood, often called the non-invasive prenatal test (NIPT), in the prenatal screening of trisomy in chromosomes 21, 18 and 13. MEDLINE, MEDLINE in process, EMBASE, and Cochrane Library were searched in April 2017. We selected: (1) economic evaluations that estimated the costs and detected cases of trisomy 21, 18 or 13; (2) comparisons of prenatal screening with NIPT (universal or contingent strategies) and the usual screening without NIPT, (3) in pregnant women with any risk of foetal anomalies. Studies were reviewed by two researchers. Data were extracted, the methodological quality was assessed and a narrative synthesis was prepared. In total, 12 studies were included, four of them performed in Europe. Three studies evaluated NIPT as a contingent test, three studies evaluated a universal NIPT, and six studies evaluated both. The results are heterogeneous, especially for the contingent NIPT where the results range from NIPT being dominant to a dominated strategy. Universal NIPT was found to be more effective but also costlier than the usual screening, with very high incremental cost-effectiveness ratios. One advantage of screening with NIPT is lower invasive procedure-related foetal losses than with usual screening. In conclusion, the cost-effectiveness of contingent NIPT is uncertain according to several studies, while the universal NIPT is not cost-effective currently.

Non‐invasive cell‐free fetal DNA testing for aneuploidy: multicenter study of 31 515 singleton pregnancies in southeastern China

“…In summary, our study supports the integration of NIPT into current clinical practice, which should avoid a large number of unnecessary cases of invasive prenatal diagnosis, decrease the risk of intrauterine infection, miscarriage and premature birth, and effectively increase the cost‐effectiveness of prenatal screening and diagnosis. In addition, incorporation of NIPT into the modern prenatal diagnostic system will greatly reduce pressure on busy invasive prenatal diagnostic laboratories, particularly in China, and improve considerably the holistic testing experience for pregnant women.…”

First‐trimester screening based on cell‐free DNA vs combined screening: A randomized clinical trial on women's experience

“…2 However, the cost of the cfDNA testing is considered higher. 3 Moreover, FTCS includes a detailed ultrasound examination of the fetus with nuchal translucency (NT) measurement that allows for early detection of fetal abnormalities. 4 An approach in which every woman is offered an early anatomy scan along with cfDNA may be a reasonable option.…”

Should pregnant women be charged for non-invasive prenatal screening? Implications for reproductive autonomy and equal access

“…In resource-constrained settings, societies may not have sufficient funds to offer NIPT free of charge. Universal NIPT is both more effective than the first-trimester combined test in detecting trisomies and more costly 17. In most ‘cost-effectiveness’ studies, however, the costs of the care and support required for children with chromosomal abnormalities are not taken into account.…”